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Perineal groove
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Perineal groove

Contributors: Justin Lee BS, William Farmer MD, Zachary Zinn MD, Susan Burgin MD, Eric Ingerowski MD, FAAP
Other Resources UpToDate PubMed

Synopsis

Perineal groove is a congenital malformation of the perineum characterized by a wet (nonkeratinized epithelium) sulcus spanning the region between the posterior vaginal fourchette and the anterior edge of the anus with a normally formed vestibule, urethra, and vagina. Associated congenital anomalies in girls are rare and include anorectal stenosis, anal ectopy, and anal prolapse. When found in boys, the groove extends from the penoscrotal junction to the anterior edge of the anus and may be associated with anomalies such as hypospadias or bifid scrotum.

The incidence of perineal groove is not known, but it is believed to be uncommon and found most frequently in girls. The pathogenesis is not completely understood, but the occurrence of the malformation in males and females suggests a possible anomaly of embryologic development common to both sexes.

The 2 types of perineal groove are:
  • Complete – The sulcus extends completely from the posterior fourchette of the vagina to the anterior edge of the anus.
  • Incomplete – The sulcus extends from the anus anteriorly but does not reach the posterior fourchette of the vagina.
Most lesions have a benign course and spontaneously undergo full or partial epithelialization by age 1-2 years, but some cases may take years to fully resolve. Complications are rare and include local irritation, skin infection, urinary tract infection, constipation, and failure to self-resolve. Additionally, there have been occasional reports of concomitant anomalies such as ectopic anus, bifid scrotum, hypospadias, and urinary tract abnormalities.

Codes

ICD10CM:
Q52.8 – Other specified congenital malformations of female genitalia
Q55.8 – Other specified congenital malformations of male genital organs

SNOMEDCT:
722860006 – Congenital perineal groove

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Rectoperineal fistula – Congenital anomaly characterized by an anus that opens anterior to its normal location. The displaced anus in these lesions is usually stenotic.
  • Fistula in ano – Abnormal tract connecting the anal canal to the skin around the anus that presents as a firm or fluctuating, tender mass near the anus. When found in infants, this pathology occurs almost exclusively in males.
  • Anal fissure – Small tear in the rectal mucosa that is a common complication of constipation in infants and most often identified in the posterior midline of the anus. This lesion can be mistaken for a partial perineal groove, but fissures are most often associated with blood-streaked stools and crying with defecation.
  • Diaper dermatitis – In severe cases, erosions or ulcers may be seen (Jacquet erosive diaper dermatitis).
  • Trauma / sexual abuse – This must be considered for any infant presenting with lesions to the perineum. Perineal groove is limited to the midline of the perineal sulcus and has regular margins with no evidence of healing or other associated injuries or scars.
  • Perianal streptococcal infection
  • Lichen sclerosus

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:06/16/2020
Last Updated:06/16/2020
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Perineal groove
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Perineal groove : Erythema, Present at birth
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